" /> Carnitine palmitoyltransferase II deficiency, lethal neonatal - CISMeF





Preferred Label : Carnitine palmitoyltransferase II deficiency, lethal neonatal;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Carnitine palmitoyltransferase II deficiency, neonatal; Cpt2 deficiency, lethal neonatal; Cpt II deficiency, lethal neonatal; Carnitine palmitoyltransferase II deficiency, antenatal;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carnitine palmitoyltransferase II gene (CPT2, 600650.0009);

Laboratory abnormalities : Increased liver function tests; Increased plasma long-chain acylcarnitines; Increased tissue long-chain acylcarnitines; Decreased plasma total and free carnitine; Decreased tissue total and free carnitine; Increased serum long-chain fatty acids; Increased tissue long-chain fatty acids; Long-chain dicarboxylic aciduria; Hyperammonemia; Increased total bilirubin; Increased tissue levels of triglycerides; Increased tissue levels of free fatty acids; Severely decreased palmitate oxidation; Severely decreased carnitine palmitoyltransferase II (CPT II) activity (less than 10% of normal) in multiple tissues; Absence of CPT II protein;

Prefixed ID : #608836;

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03/05/2025


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